L42P (p.Leu42Pro) variant of PTH (Parathyroid hormone)
L42P (p.Leu42Pro) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- gnomAD 11-13492628-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.79
- MetaLR 0.64
- MetaSVM 0.33
- CADD 24.80
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available